Kornimate/medical-research-clean huggingface dataset:
dysautonomic phenotype in male patients with mecp2 mutation

Conditions: MECP2-Related Severe Neonatal Encephalopathy; Dysautonomia; Masculinity

Summary: dysautonomic signs are well known among girls with a rett syndrom. rett syndrom is caused by a mecp2 mutation in 95% of cases. we want to search dysautonomic signs among boys with a mecp2 mutations because they are less studied than the girls and they have more varied phenotypes.

first, we will launch a national call for participation in all the genetics departments in france to research boys with a missense or a non-sens mutation in the mecp2 gene. our inclusion criteria is : less than 16 years old or dead before 16 years old patients of masculin sex with a missense or non-sens mutation in the mecp2 gene. exclusion criteria is : patient under judicial protection or participation refusal by one of the legal guardian. inclusion will take place in august 2020. we had conceived an excel spreadsheet (2007 version) to collect all the datas needed with general data such as age, genetic mutation with the hgvs nomenclature using the nm_001110792.2, familial and personal history, mensurations, dysmorphic signs. to search dysautonomic signs, we used a system approach. we will look for neurological signs : abnormal movements, sleep disturbance, cardiologic signs :abnormal bradycardia or tachycardia, hypotension, rythms anomalies, respiratory signs : respiratory irregularities, apnea, hyperpnea , digestive signs : gastrooesophagal reflux, constipation, diarrhea, vomiting or subocclusif episodes, thermoregulation signs : abnormal hypo or hyperthermia, excessive sweating. each time a dysautonomic sign will be reported in a letter of a patient, we will demand this sign to be objectived by a complementary exam, or by a precise device during an hospitalisation : electoencephalogram (eeg), polysomnography (psg), electrocardiogram (ecg), holter-ecg, digestive fibroscopies, scoped surveillance. if we have a positive response, we will contact the main caregiver of the patient who can be a neurologist or a geneticist and will provid him a spreadsheet and an explanatory sheet. we will ask of him a systematic review of all the letters of the patient including letters of hospitalisation, of the specialists, complementary exams. a non-opposition letter will be sent to him in a way he can send it to the legal guardians of the children : a non-opposition of 15 days will be requested. then, the filled spreadsheet will be sent back to the center of inclusion in brest through a securised mailbox. data will be kept on a secure database with a password. our primary endpoint is the presence of at least one dysautonomic sign. we intend to include between 10 and 20 patients in this multicentric study. to analyse our results, we will use a descriptive approach. this protocole was validated by the ethic comitee of brest in june 18, 2020

Eligibility criteria:
inclusion criteria:less than 16 years old or dead before 16 years old patients of masculin sex with a missense or non-sens mutation in the mecp2 gene - exclusion criteria:patient under judicial protection or participation refusal by one of the legal guardian -
the begin study bifidobacterium infantis to newborns: effects of modulating the gut microbial composition on growth, immune function and inflammatory conditions - a randomized placebo-controlled double-blinded intervention trial

Conditions: Healthy; Healthy Nutrition

Summary: the goal of the begin study, a randomized controlled double-blinded intervention trial, is to learn if probiotics, with bifidobacterium longum subspecies infantis bifin02 (b. infantis), given to healthy newborns can affect various health outcomes and to explore impacts of the infant gastrointestinal microbiome. the main questions it aims to answer are: * does b. infantis probiotics impact immune function and does it lower the number of bacterial infections and use of antibiotics? * does b. infantis probiotics impact overall health, development, growth and wellbeing? * does b. infantis probiotics impact inflammatory diseases, allergies and autoimmune diseases researchers will compare b. infantis probiotics to a placebo (a look-alike substance that contains no probiotic) to see if b. infantis colonization impact the human immunesystem and various clinical and biochemical health markers. participants (parents) will * orally administrate the b. infantis probiotic to their newborn child daily in three weeks from 7 days of age. * answer baseline and follow up questionnaires in a study app * take five stool samples from the child and one stool sample from the mother * collect a 4 week of passive dust sample at home (electrostatic dust fall collector) * donate one dried bloodspot and one blood sample from their child


Eligibility criteria:
inclusion criteria: * infants born at term (above gestational week 37) * infants born in region midtjylland denmark receiving a danish cpr number. * parents age is above 18 * at least one parent holds a smartphone (for study app) and is able to fill out danish questionaries * both legal parents are willing and able to provide written informed consent prior to participation, regarding both themselves and their future child. exclusion criteria: * multiple pregnancy * child diagnosed with immune deficiency, renal, gastrointestinal, hepatic, or endocrine diseases * parents expecting to give other probiotics

Keywords: microbiota gastrointestinal microbiome probiotics bifidobacterium longum subspecies infantis paediatrics infant child immunology infections inflammation growth and development colic respiratory tract diseases metabolism
neurostimulation for treatment of chronic upper limb pain after brachial plexus injury

Conditions: Brachial Plexus Injury

Summary: the purpose of this study is to see how much pain intensity is affected by high frequency spinal cord stimulation therapy in individuals with serious brachial plexus injury.

this single-site prospective observational cohort study will include all adults (\> 18 years old) with brachial plexus avulsion injury who are candidates for high frequency (hf10) spinal cord stimulation (scs). we plan to prospectively observe patients who undergo implantation of hf10 scs for the indication of chronic neuropathic pain of the upper limb following brachial plexus avulsion injury.

Eligibility criteria:
inclusion criteria: * age \> 18 years old * neuropathic pain of the upper limb ≥ 3 months following brachial plexus avulsion injury. * patients must be planned to undergo implantation of high-frequency spinal cord stimulation for the treatment of chronic neuropathic pain due to brachial plexus avulsion injury. exclusion criteria: * pain that is non-neuropathic as defined by dn4 score \<4. * pregnant at the time of consideration for implant or planning to become pregnant during the study duration. * active substance use disorder of any kind. * active tobacco use. * use of moderate or high dose opioid medication (oral morphine equivalents \>100 mg daily). * active, untreated major psychiatric disorder that might interfere with subject's ability to participate. * involvement in active litigation related to injury. * patient has not undergone conservative medical management for at least 3 months (including physical and/or occupational therapy and at least one trial of neuropathic pain medication).
efficacy of lifestyle interventions and metformin for the treatment of antipsychotic-induced weight gain

Conditions: Weight Gain

Summary: lifestyle intervention and certain medications have been shown to be effective for antipsychotic-induced weight gain, but no controlled studies have compared psychological and pharmacological therapies. we conducted a randomized, placebo-controlled study to test the efficacy of lifestyle intervention and metformin alone and in combination for antipsychotic-induced weight gain.

the study was designed as a double-blind randomized controlled trial, with research assessors and patients intended to be blind to the intervention status. the staff members performing the assessment were not involved in implementing any aspect of the intervention.128 patients were randomized to one of four 12-week individual treatments: metformin (750mg/day), placebo, lifestyle intervention plus metformin (750mg/day) or lifestyle intervention plus placebo. medications were provided in double-blind fashion.the assessments include body weight, body mass index, waist circumference, fasting glucose, fasting insulin and insulin resistance index.

Eligibility criteria:
inclusion criteria: * all participants met the diagnostic and statistical manual of mental disorder-fourth edition (dsm-ⅳ) criteria for schizophrenia27. * participants were required to get weight gain more than 10% of their predrug body weight during less than 12 months of treatment with a targeted antipsychotic agent- clozapine, olanzapine, risperidone or sulpiride. * the duration of illness for all participants was less than 12 months. * participants could be taking only one antipsychotic, whose dose had not changed by changed by more than 25% over the past 3 months. * all patients were stable outpatient. * the total score of positive and negative syndrome scale (panss) for all patients could be ≤60. * all participants were ensured that they could be carefully taken care of by one of their parents or guardians during the trial. exclusion criteria: * participants were excluded from the study if they had evidence of liver or renal diseases, pregnant or lactating women, cardiovascular diseases, hypertension or diabetes mellitus, specific systemic diseases, or conditions that limited their ability to perform the lifestyle modifications, such as arthritis, pulmonary diseases, neurological or dietary restrictions.

Keywords: weight gain antipsychotic lifestyle interventions metformin antipsychotic-induced weight gain.
nivolumab for recurrent/metastatic carcinosarcoma

Conditions: Recurrent/Metastatic Carcinosarcoma

Summary: carcinosarcoma is a malignant neoplasm that is composed of both epithelial and mesenchymal elements and aggressive tumor that are staged as high-grade cancer in nccn guideline. they are regarded as rare aggressive malignancies with a high potential to develop distant metastases and are associated with an overall poor survival. the aggressive nature of this malignancy coupled with a high relapse rate defines a poor clinical course for most patients. first line treatment of patients with advanced uterine carcinosarcoma with paclitaxel plus carboplatin achieved an objective response rate of 54% of patients. for this orphan tumor, carcinosarcoma, as these drugs would hypothetically act only on tissues with overexpression of pd-l1, they theoretically provide a more precise therapeutic effect on tumor cells with considerably less side effects. therefore, the investigators suggest phase ii trial of nivolumab for metastatic/recurred carcinosarcoma who have progressed after prior chemotherapy.

single center, prospective phase ii trial.

Eligibility criteria:
inclusion criteria: 1. histologically confirmed recurrent/metastatic carcinosarcoma 2. ecog performance status of 0 to 1 3. ≥ 19 years of age 4. at least 1 prior chemotherapy 5. patients who have at least 1 measurable disease per the recist guideline ver. 1.1 as confirmed by imaging within 28 days before randomization 6. subjects who meet the following criteria: * absolute neutrophil count (anc) ≥ 1500 /µ * platelet count ≥ 75,000/ µl * serum creatinine \< 1.5 x upper limit of normal (uln) * ast (sgot) and alt (sgpt) \< 3 x upper limit of normal (uln) (if there is liver metastasis \< 5 x upper limit of normal (uln)) * total bilirubin \< 1.5 x upper limit of normal (uln) exclusion criteria: 1. more than 4 prior cytotoxic agents 2. prior treatment with systemic pd-l1-directed therapy 3. patient who has had chemotherapy, radiotherapy, or biological therapy within 2 weeks prior to entering the study, or who has not recovered from the adverse events due to previous agents administered more than 2 weeks prior to study day 4. subjects with symptomatic central nervous system (cns) metastases who are neurologically unstable or have required increasing doses of steroids within the 2 weeks prior to study entry to manage cns symptoms 5. patients with multiple primary cancers (with the exception of completely resected basal cell carcinoma, stage i squamous cell carcinoma, carcinoma in situ, intramucosal carcinoma, or superficial bladder cancer, or any other cancer that has not recurred for at least 3 years) 6. history of active non-infectious pneumonitis requiring treatment with steroids, or history or current signs of chronic interstitial lung disease 7. known active infection

Keywords: carcinosarcoma nivolumab
trial of hypofractionated imrt boost versus conventional imrt boost for localized high risk prostate cancer

Conditions: Prostate Cancer

Summary: hypofractionation: 48 gy in 25 fractions to pelvic lymph nodes while the prostate receives 68 gy in 25 fractions concomitantly. standard fractionation: pelvic lymph nodes and prostate will initially be treated to 46 gy in 23 fractions, followed by a subsequent boost to the prostate to a total dose of 78 gy over 39 fractions.

half the participants will receive using a one phase imrt plan, the pelvic lymph nodes will be treated to a dose of 48 gy in 25 fractions, while the prostate will be treated to a dose of 68 gy in 25 fractions concomitantly (simulataneous integrated boost). the other half of the participants will receive standard fractionation using 2 sequential imrt plans, the pelvic lymph nodes and prostate will initially be treated to 46 gy in 23 fractions, followed by a subsequent boost to the prostate to a total dose of 78 gy.

Eligibility criteria:
inclusion criteria: * written informed consent obtained. * histologically confirmed diagnosis of adenocarcinoma of the prostate. * clinical stage t1-2 n0 m0, gleason score ≤ 7, psa 20 - 100 * t1-2 n0 m0, gleason score 8 - 10, psa ≤ 100 * t3 n0 m0, any gleason score, psa ≤ 100 exclusion criteria: * patients with unilateral or bilateral hip replacement. * patients with active collagen vascular disease. * patients with active inflammatory bowel disease. * patients with previous radiotherapy to the pelvis. * patients with ataxia telangiectasia. * patients with nodal or distant metastases
impact of histologic concordance between biopsies and the endoscopic resection specimen, in the treatment of barrett's esophagus in dysplasia, on the recurrence of dysplasia

Conditions: Barretts Esophagus With Dysplasia

Summary: influence of histological concordance on the risk of recurrence: the histological concordance being the comparison between the biopsies and the endoscopic resection piece and its concordant response rate.

influence of histological concordance on the risk of recurrence: the histological concordance being the comparison between the biopsies and the endoscopic resection piece and its concordant response rate.

Eligibility criteria:
inclusion criteria: * patients with dhg on barrett's esophagus on endoscopic biopsies followed by endoscopic resection. exclusion criteria: -

Keywords: barretts esophagus dysplasia
tate and kn046 in mcrc

Conditions: Colorectal Cancer with Hepatic Metastases

Summary: a single-arm, multicenter, phase iia study of intra-arterial administration of tirapazamine followed by transarterial embolization (tate) and kn046 (recombinant humanized anti-pd-l1/ctla-4 bispecific single-domain antibody fc fusion protein injection) in patients with liver metastases from colorectal cancer.


Eligibility criteria:
inclusion criteria: * liver metastatic mss/pmmr-mcrc; * mcrc progressed on at least two lines of standard chemotherapy; * measurable disease; * ecog 0-1; * adequate organ function exclusion criteria: * prior organ transplantation; * oxygen saturation less than 92% in room air; * prior autoimmune disorder; * major gi bleeding in the last 2 months; * prior treatment with anti-pd-1, anti-pd-l1, or anti-ctla-4 antibody therapy, or any other antibody or drug that specifically targets t-cell co-stimulation or immune checkpoint pathways.

Keywords: colorectal cancer liver metastasis tirapazamine kn046 (pd-l1/ctla-4 bispecific antibody)
study of da-9801 to treat diabetic neuropathic pain

Conditions: Diabetic Neuropathies

Summary: this is a phase ii dose-ranging study to evaluate the effectiveness and safety of da-9801 in the treatment of pain associated with diabetic neuropathy. subjects will receive either 300mg, 600mg, 900mg or placebo, three times daily for eight weeks. during treatment, pain score by likert numerical rating scale, patient global impression of improvement (pgi-i) and change in clinical global impression(cgi)are accessed to evaluate the effectiveness.


Eligibility criteria:
inclusion criteria: * the age of 20 \~ 70 * type i or type ii diabetes * hba1c ≤11% * patients with diabetic neuropathic pain for at least 3 months * patients corresponding to average pain level of 4 points or more for 24 hours evaluated with 11-point likert scale exclusion criteria: * neuropathic pain due to other causes or another stronger pain other than neuropathic pain * abnormal in blood pressure, weight, alt/ast, serum creatinine * positive reaction in hiv, hbv, or hcv * experience of suicide try or mental illness medical history * bdi(beck depression inventory) grade exceeding 21 points chronic alcohol abuse history

Keywords: diabetic neuropathies
a study of trk-170 for the treatment of crohn's disease

Conditions: Crohn's Disease

Summary: in crohn's disease patients * to evaluate the efficacy of trk-170 * to evaluate the pk characteristics of trk-170 * to assess the safety of trk-170


Eligibility criteria:
inclusion criteria: * patient has a diagnosis of crohn's disease before screening * patient has stable disease activity exclusion criteria: * patient has had a clinically significant illness prior to screening * patient with clinically significant deviations in laboratory values

Keywords: crohn's disease activity index crohn's disease inflammatory bowel disease
telerehabilitation for the hand and arm after stroke and traumatic brain injury

Conditions: Cerebrovascular Accident; Traumatic Brain Injury

Summary: the goal of this project is to develop a low-cost, user-friendly, portable telerehabilitation system for physical therapy of the upper limb after stroke or traumatic brain injury. the system is based on the use of a commercially available force feedback joystick and will work with an ordinary home pc and a standard high-speed internet connection. using the joystick, the patient will perform exercises designed to aid in recovering motor function of the hand and arm. the joystick will be programmed to either assist or resist the patient's movements. the system will include sophisticated analysis of patient status and progress to provide the therapist and physician with detailed information. in the first phase of the study, we will develop the system in cooperation with the physical therapy staff and other rehabilitation specialists. the investigators will examine the usability, comfort, safety and therapeutic benefit of the system. in the second phase of the study, the investigators will employ the system in patients' homes, using the internet to connect to rehabilitation specialists in the clinic. the study hypothesis is that it is possible to adapt commercially available, low cost gaming equipment such as force feedback joysticks to provide therapy for patients in their own homes, and that patients will be able to work with this system and will find it enjoyable and helpful for recovering motor function.


Eligibility criteria:
inclusion criteria: * post-cerebrovascular accident or post-traumatic brain injury * in medically stable condition * resident in israel note: in addition there will be healthy, age-matched volunteers exclusion criteria: * history of psychiatric illness * grade of less than 23 in the mini-mental test * inability to understand informed consent form * inability to follow 3-step instructions * pregnancy * receptive aphasia

Keywords: cerebrovascular accident traumatic brain injury stroke telerehabilitation
study to learn when platelets return to normal after one loading dose of anti-platelet drugs in patients with symptoms of acute coronary syndromes

Conditions: Acute Coronary Syndromes

Summary: to investigate how platelets recover to normal function in subjects who have symptoms of a heart attack or unstable angina and who get a loading dose of prasugrel or clopidogrel for planned coronary angiography.


Eligibility criteria:
inclusion criteria: * men or women ≥18 to \<80 years of age who present with any one of the following: * symptoms of acute coronary syndromes (acs) * clinical symptoms of angina, or a positive stress test or who return for routine follow up angiography post stent placement in whom co-administration of aspirin and a thienopyridine (that is, clopidogrel, ticlopidine, or prasugrel) is not contraindicated exclusion criteria: * those presenting with st-elevation mi (stemi) * histories of refractory ventricular arrhythmias * an implanted defibrillator device * congestive heart failure (nyha class iii or above) within 6 months prior to screening * significant hypertension * subjects with a history or clinical suspicion of cerebral vascular malformations, transient ischaemic attack, or stroke * bleeding disorders * women known to be pregnant, who have given birth within the past 90 days, or who are breastfeeding

Keywords: acute coronary syndromes angina platelet function coronary angiography clinical symptoms of angina positive stress test
a study to determine safety and tolerability of gmi-1359 in subjects with hr+ metastatic breast cancer

Conditions: HR+ Metastatic Breast Cancer; Breast Cancer; Breast Cancer Metastatic

Summary: this trial is being conducted to investigate the safety, tolerability, pharmacokinetics (the effect the body has on the drug), and pharmacodynamics (the effect the drug has on the body) of gmi-1359 when given with standard-of-care treatment to subjects with hr+ metastatic breast cancer.


Eligibility criteria:
inclusion criteria: * pathologically confirmed hr+ metastatic breast cancer, currently stable or minimally progressive on current endocrine-based therapy. * continuing on current endocrine-based therapy with an aromatase inhibitor, selective estrogen receptor degrader, or selective estrogen receptor modulator; and must be medically eligible to remain on this therapy during the treatment period. exclusion criteria: * uncontrolled acute life-threatening bacterial, viral, or fungal infection. * subjects who are pregnant or breastfeeding * concurrent treatment with any cytotoxic chemotherapy agent or other targeted therapies including her2 targeting therapies * currently receiving, or less than 28 days since ending treatment on another investigational drug. * clinically significant cardiovascular disease. * abnormal liver function. * any medical, psychiatric, or other condition which, in the opinion of the investigator, is likely to interfere with trial completion, assessments, or interpretation of trial results, or otherwise would make the subject an inappropriate subject for this trial.

Keywords: gmi-1359 breast cancer hr+ metastatic breast cancer
vitamin d for chronic sinusitis

Conditions: Chronic Sinusitis

Summary: the purpose of this study is to examine if vitamin d improves the symptoms of chronic sinusitis.


Eligibility criteria:
inclusion criteria: * african american (4 grandparents with aa ancestry) * age\>18 years * diagnosis of chronic sinusitis exclusion criteria: * women of childbearing potential not utilizing contraception * subjects with contraindications to vitamin d therapy * history of nephrolithiasis, hypercalcemia, sarcoidosis, recent (3 month) hospitalization * use of immunosuppressants/medications that interfere with vitamin d metabolism (e.g., phenytoin and carbamazepine) * malignancy * kidney, gastrointestinal, or liver disorders * immunodeficiency * morbid obesity (bmi\>35 kg/m2) * changes to medications for 6 months prior to study entry